Incidental Mutation 'IGL02612:Ints2'
| ID |
300523 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86106404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1002
(D1002G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: D1002G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: D1002G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: D1002G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: D1002G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
| Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
| Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,124,080 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,019,945 (GRCm39) |
C466R |
probably damaging |
Het |
| Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
| Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
| Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
| Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
| Grk3 |
A |
T |
5: 113,117,100 (GRCm39) |
D100E |
probably benign |
Het |
| Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
| Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
| Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
| Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
| Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
| Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
| Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
| Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
| Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
| Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
| Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
| Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
| Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
| Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
| Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
| Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
| Vmn2r117 |
A |
T |
17: 23,678,758 (GRCm39) |
M822K |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
| Wdr26 |
A |
T |
1: 181,005,361 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
| Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
| Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
probably benign |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86,123,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ints2
|
APN |
11 |
86,124,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03396:Ints2
|
APN |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Ints2
|
UTSW |
11 |
86,125,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Ints2
|
UTSW |
11 |
86,139,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Ints2
|
UTSW |
11 |
86,124,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0944:Ints2
|
UTSW |
11 |
86,135,289 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1268:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Ints2
|
UTSW |
11 |
86,140,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1474:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1503:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1840:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Ints2
|
UTSW |
11 |
86,108,626 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1990:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1991:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3694:Ints2
|
UTSW |
11 |
86,133,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4056:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Ints2
|
UTSW |
11 |
86,147,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Ints2
|
UTSW |
11 |
86,147,035 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4929:Ints2
|
UTSW |
11 |
86,103,479 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5031:Ints2
|
UTSW |
11 |
86,147,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Ints2
|
UTSW |
11 |
86,140,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Ints2
|
UTSW |
11 |
86,106,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Ints2
|
UTSW |
11 |
86,133,773 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5875:Ints2
|
UTSW |
11 |
86,129,138 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5908:Ints2
|
UTSW |
11 |
86,106,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Ints2
|
UTSW |
11 |
86,113,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5941:Ints2
|
UTSW |
11 |
86,141,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5975:Ints2
|
UTSW |
11 |
86,117,574 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6003:Ints2
|
UTSW |
11 |
86,129,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Ints2
|
UTSW |
11 |
86,127,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6209:Ints2
|
UTSW |
11 |
86,115,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Ints2
|
UTSW |
11 |
86,117,487 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6764:Ints2
|
UTSW |
11 |
86,103,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7033:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Ints2
|
UTSW |
11 |
86,108,580 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7337:Ints2
|
UTSW |
11 |
86,108,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7410:Ints2
|
UTSW |
11 |
86,124,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7483:Ints2
|
UTSW |
11 |
86,106,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Ints2
|
UTSW |
11 |
86,122,881 (GRCm39) |
missense |
probably benign |
|
|
R7804:Ints2
|
UTSW |
11 |
86,103,489 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7845:Ints2
|
UTSW |
11 |
86,129,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7875:Ints2
|
UTSW |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7918:Ints2
|
UTSW |
11 |
86,113,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Ints2
|
UTSW |
11 |
86,135,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8058:Ints2
|
UTSW |
11 |
86,146,179 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8134:Ints2
|
UTSW |
11 |
86,103,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Ints2
|
UTSW |
11 |
86,106,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Ints2
|
UTSW |
11 |
86,115,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8348:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
|
R8448:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
|
R8784:Ints2
|
UTSW |
11 |
86,115,941 (GRCm39) |
nonsense |
probably null |
|
|
R8784:Ints2
|
UTSW |
11 |
86,112,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Ints2
|
UTSW |
11 |
86,103,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Ints2
|
UTSW |
11 |
86,106,530 (GRCm39) |
missense |
probably benign |
|
|
R9154:Ints2
|
UTSW |
11 |
86,125,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Ints2
|
UTSW |
11 |
86,135,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9412:Ints2
|
UTSW |
11 |
86,117,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9472:Ints2
|
UTSW |
11 |
86,133,824 (GRCm39) |
missense |
|
|
|
R9476:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
R9510:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation